Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Gen Path > Section 6 Continued > Flashcards

Section 6 Continued Flashcards

1
Q

Complex multigenic disorders

A

More than 2 altered genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Complex multigenic Disorders usually result of the sum of ___ and ___

A

Genetics

Environment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Features of complex multigenic disorders

A
  1. Increase number of altered genes = increase risk
  2. Identical twins share risk
  3. Relatives have similar risk
  4. Expression in 1 child = increase risk in siblings
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Loss of genetic material is more

A

Severe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Gain of genetic material is

A

Less severe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Example of loss of genetic material

A

Monosomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Example of gain of genetic material

A

Trisomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Most ___ are spontaneous

A

Chromosomal disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Down Syndrome

A

Trisomy 21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Edwards Syndrome

A

Trisomy 18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Patau Syndrome

A

Trisomy 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Cri du Chat

A

Fragmented 5th chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Freq. of Down syndrome

A

1 in700

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Freq. of Edwards Syndrome

A

1 in 8,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Freq. of patau syndrome

A

1 in 15,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Cri du chat freq.

A

1 in 50,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

___ and ___ commonly affected in chromosomal disorders

A

Brain

Kidney

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

MC chromosomal disorder

A

Trisomy 21

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Largest risk for Down syndrome

A

Advanced maternal age

> 45 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

People with trisomy 21 have ___ chromosomes

A

47

23 +24

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Down syndrome is commonly due to

A

Meiotic nondisjunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

30% of people with Down syndrome have

A

Atlantoaxial instability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Signs of Down syndrome

A 
Cognitive impairment 
Flat facies 
Epicanthic folds 
Cardiac malformations
Upslanted palpebral fissures 
Simian crease 
Shy demeanor
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Patients with Down syndrome are predisposed to

A

Leukemia
Lung infections
Alzheimer’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Freq. of DiGeorge Syndrome

A

1 in 4,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

22q11.2 Deletion Syndromes

A
  1. DiGeorge Syndrome

2. Velocardiofacial Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

3 causes of Down syndrome

A
  1. Meiotic nondisjunction (95%)
  2. Robertsonian Translocation (4%)
  3. Mosaicism (1%)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Most severe way to acquire Down syndrome

A

Meiotic nondisjunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Signs of DiGeorge Syndrome

A 
C- cardiac anomalies
A- abnormal facies 
T- thymus hypoplasia 
C- cleft palate
H- hypocalcemia (hypoparathyroidism)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Signs of Velocardiofacial syndrome

A

Pronounced cardiac and facial abnormalities

Mild immunodeficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

2 allosomal Disorders

A

Klinefelter syndrome

Turner syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Sex chromosome disorders are

A

Less severe, more compatible with life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Lyonization

A

X- inactivation

Results in Barr body

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Klinefelter syndrome MC on

A

47th chromosome, XXY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Klinefelter syndrome is a result of

A

Meiotic nondisjunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Freq. of Klinefelter syndrome

A

1 in 1,000 males

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

MC cause of male hypogonadism and sterility

A

Klinefelter syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Turner syndrome is MC from

A

Absence of X chromosome (45X)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Freq. of Turner syndrome

A

1 in 3000 females

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Signs of Turner syndrome

A
  1. Short stature
  2. Amenorrhea (streak ovaries)
  3. Neck webbing
  4. Cubitus Valgus
  5. Many moles
  6. Heart malformations
  7. Shield chest (wide set nipples)
  8. Androgynous appearance
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Turner syndrome can result from loss of

A

Short (p) arm on an X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Examples of single gene disorders with atypical inheritance

A
  1. Triplet-repeat mutations
  2. Mitochondrial gene mutations
  3. Genomic imprinting
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Fragile X syndrome example of

A

Triplet-repeat mutation

> 200 CGGs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Gene affected in fragile X syndrome

A

FMR1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

More repeats in fragile X syndrome means the condition is

A

More severe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Signs of fragile X syndrome

A
  1. Microorchidism (90%)
  2. Long face
  3. Large mandible
  4. Large/everted ears
  5. Flat feet
  6. Hypotonia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Fragile X is unique for 2 reasons

A
  1. Genetic anticipation

2. Can affect females

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Genetic anticipation

A

Condition worsens with each successive generation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Leber hereditary optic neuropathy example of

A

Mitochondrial gene mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Leber hereditary optic phosphorylation signs

A

Degeneration of retinal ganglia and CNII

Progressive and bilateral loss of central vision

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Mitochondrial gene mutations follow a strict

A

Maternal inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Angalman syndrome and Prader-Willi syndrome are examples of

A

Genomic imprinting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Angelman syndrome

A

Paternal imprinting and maternal deletion of 15q12

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Signs of angleman syndrome

A 
Mental retardation 
Seizures 
Ataxia
Happy puppet syndrome 
Love water
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Prader-Willi syndrome

A

Maternal imprinting and paternal deletion of 15q12

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Signs of Prader-Willi syndrome

A 
Hypotonia 
Mental retardation 
Obesity - hyperplasia 
Short stature
Small hands/feet 
Hypogonadism
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Epigenetic silencing freq.

A

1 in 25,000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

3% of neonates have

A

Congenital anomalies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

2 types of perinatal infections

A

Transcervical

Transplacental

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Transcervical infections

A

MC bacteria

Enter amniotic fluid

61
Q

MC bacteria in transcervical infections

A

Neisseria gonorrhea
Chlamydia trachomatis
Candida albicans

62
Q

Transplacental infections

A

Blood to baby

63
Q

Causes of transplacental infections

A 
T- toxoplasma gondii 
O- other 
R- rubella virus 
C- CMV
H- HSV
64
Q

2nd cause of neonatal mortality

A

Prematurity

65
Q

Prematurity born at

66
Q

Respiratory distress syndrome has low

A

Surfactant

67
Q

Prematurity and respiratory distress syndrome relationship

A

<28 wks= 60%

>35 wks = 5%

68
Q

Potential causes of respiratory distress syndrome

A

Maternal diabetes
C- section
Males

69
Q

Treatment for respiratory distress syndrome

A

Steroids
Surfactant
Artificial ventilation

70
Q

Respiratory distress syndrome can lead to

A

Atelectasis

Tissue hypoxia

71
Q

Pre-term

72
Q

Early term

73
Q

Full term

74
Q

Late term

75
Q

Post-term

76
Q

Pediatric respiratory distress syndrome is ___, with __ absent

A

Non-inflammatory

Neutrophils

77
Q

Necrotizing Enterocolitis (NEC) can result in ___ due to underdeveloped GI tract

A

GI necrosis and ulceration

78
Q

Locations of NEC

A

Ileum
Cecum
Ascending colon

79
Q

Risks for NEC

A

Premature
Enteral feeding
Very low birth weight (10%)

80
Q

Histological evidence of RDS

A

Hyaline membranes

81
Q

Abdomen is distended in NEC due to

A

Gas buildup

82
Q

Bloody stools in NEC can indicate

A

Circulatory collapse

83
Q

3rd MC cause of infantile death

84
Q

Age range of SIDS

A

90% <6 months

MC 2-4 months

85
Q

SIDS is

A

Idiopathic

86
Q

Pneumatosis Intestinalis in NEC

A

Gas collections in abdomen due to infections

87
Q

Triple risk model for SIDS

A
  1. Vulnerable infant
  2. Critical development time for homeostasis
  3. Exogenous stressors
88
Q

Vulnerable infant for SIDS

A

Male
Family history
Hypoplasia of arcuate nucleus

89
Q

Critical time for homeostasis

A

1 month - 1 year

90
Q

Other risks for SIDS

A 
Prone sleeping (50% of risk)
Soft bedding 
Bed co-sharing (<3 months)
Maternal smoking 
URTI 
Limited prenatal care
91
Q

Causes of small for gestational age

A
  1. Maternal abnormalities
    (Malnutrition, diabetes, preeclampsia, teratogenic exposure)
  2. Fetal abnormalities
  3. Placental abnormalities
92
Q

Surfactant produced by

A

Type 2 pneumocytes

93
Q

Surfactant production results in reduced

A

Surface tension in lungs

94
Q

Low surfactant can lead to

A

Atelectasis

95
Q

___ regulates surfactant production in mature fetal lung tissue

96
Q

Fetal Hydrops

A

Severe fetal edema during gestation

97
Q

Categories of fetal Hydrops

A

Hydrops Fetalis

Cystic hygroma

98
Q

Hydrops Fetalis

A

Widespread edema

Lethal

99
Q

Cystic hygroma

A

Localized edema

Compatible with life

100
Q

Possible causes of fetal Hydrops

A

Fetal anemia

Cardiovascular abnormalities

101
Q

Complete recovery of fetal Hydrops usually results in

A

Cystic hygroma

102
Q

Immune Hydrops aka

A

Erythroblastosis Fetalis

103
Q

Antibody- induced hemolysis

A

Immune Hydrops

104
Q

Immune Hydrops occurs due to blood incompatibility, but is rare due to

A

Rh prophylaxis

Anti-D or RhoGAM

105
Q

MC fetal Hydrops

A

Nonimmune fetal Hydrops

106
Q

Result of erythroblastosis Fetalis

A

Kernicterus

107
Q

Kernicterus observes an increase in ___ , which is neurotoxic and can accumulate in __ and ___

A

Bilirubin

Basal ganglia
Brain stem

108
Q

2nd MC death from 5-14 years old

A

Pediatric tumors

109
Q

Benign pediatric tumors

A

Hemangioma

Lymphangiomas

Sacrococcygeal teratomas

110
Q

Signs of hemangiomas

A

Nevus Flammeus
“Port wine stain”

Nevus flammeus nuchae
“Stork bite”

Strawberry appearance

111
Q

<1% all bone tumors of vertebral bodies or skull

A

Vertebral hemangioma

112
Q

MC germ cell tumor of childhood

A

Sacrococcygeal teratoma

113
Q

Lymphangiomas common in these areas

A

Neck
Trunk
Axilla

114
Q

___ hemangiomas are less likely to naturally fade with age

115
Q

Sign of vertebral hemangiomas

A

Corduroy vertebrae

116
Q

Most sacrococcygeal teratomas are

117
Q

Malignant sacrococcygeal teratomas location

A

Internal, near bladder or rectum

118
Q

Immature teratomas have ___ and __ features

A

Benign and malignant

119
Q

MC childhood cancer

120
Q

Pediatric malignancy affects these tissues:

A

Hematopoietic
Neuronal
Soft tissues

121
Q

Cancer of neural crest-derived cells

A

Neuroblastoma

122
Q

Neuroblastoma affects __ and ___, components of the SNS

A 
Sympathetic ganglia (60%)
Adrenal medulla (40%)
123
Q

Sign of neuroblastoma

A

Catecholamines in urine

124
Q

Neuroblastoma composes 50% of ___ cancers and 7-10% ___ cancers

A

Infantile

All pediatric cancers

125
Q

Neuroblastoma Mets via

A

Blood or lymphatics

126
Q

“Blueberry muffin baby” observed with ___ in this stage

A

Neuroblastoma

Stage 4S

127
Q

Neuroblastoma Mets usually goes to

A

Liver
Lungs
Bone marrow

128
Q

Homer-wright (pseudo) rosettes

A

Malignant neural crest cells surrounding neutrophil

Most secrete catecholamines (NE)

129
Q

Homer-wright rosettes observed in

A

Neuroblastoma

130
Q

Retinoblastoma

A

Retinal CA

131
Q

Retinoblastoma MC age __ and is rarely ___

A

2

Congenital

132
Q

Retinoblastoma can be __ or __

A

Genetic

Sporadic

133
Q

Most cases of retinoblastoma are ___

A

Sporadic (60%)

134
Q

Genetic retinoblastoma

A

Inherited RB mutation

135
Q

Sporadic retinoblastoma

A

Sporadic RB mutation

136
Q

Genetic retinoblastoma is multiple and ___

137
Q

Genetic retinoblastoma increases risk of

138
Q

Pediatric cancers are usually composed of ___ cells

A

Primitive/ embryonal

139
Q

In patients older than 2 yo, ___ may go unnoticed until metastatic destruction

A

Neuroblastoma

140
Q

Stage 4S of neuroblastoma involve Mets to

A

Liver
Skin
Bone marrow

141
Q

Signs of retinoblastoma

A

Pain
Cat’s eye reflex
Strabismus (cross-eyed)
Poor vision

142
Q

Flexner-wintersteiner rosettes

A

Cuboidal cells around empty lumen

143
Q

Flexner-wintersteiner rosettes observed in

A

Retinoblastoma

144
Q

Retinoblastoma can Mets via ___ and affect Calvarium, or other osseous or lymphatic tissues

145
Q

Wilms tumor aka

A

Nephroblastoma

146
Q

Wilms tumor is childhood

A

Renal cancer

147
Q

Wilms tumor MC

148
Q

Wilms tumor associated with WAGR syndrome, which stands for

A

Wilms tumor
Aniridia
Genitourinary
Mental retardation

149
Q

Treatment for wilms tumor

A

Nephrectomy

Chemo

Gen Path (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions